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Research

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. 

Research

The future of paediatric obstructive sleep apnoea assessment: Integrating artificial intelligence, biomarkers, and more

Assessing obstructive sleep apnoea in children involves various methodologies, including sleep studies, nocturnal oximetry, and clinical evaluations. Previous literature has extensively discussed these traditional methods. 

Research

Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population study

Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.

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Examining Changes in Implementation of Priority Healthy Eating and Physical Activity Practices, and Related Barriers, Over Time in Australian Early Childhood Education and Care Services

Promoting healthy eating and physical activity in early childhood education and care is recommended within guidelines and supported by health promotion programs; however, implementation is suboptimal. Evidence suggests implementation within the sector varies over time; however, this has not been empirically examined in relation to implementation barriers. 

Research

Mining single-cell data for cell type-disease associations

A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and

Research

Protocol to implement and evaluate a culturally secure, strength-based, equine-assisted learning program, "Yawardani Jan-ga" (horses helping)

Australian Aboriginal people experience stressors from inequalities across crucial social determinants, including deep and entrenched disadvantage and exclusion. The impact of unaddressed historical issues is pervasive and intergenerational. The disproportionate rates of Aboriginal youth suicide, juvenile detention and imprisonment highlight the inadequacy of existing social and emotional wellbeing programs and services for Aboriginal children and young people.

Research

Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal age

This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.

Research

Preliminary validity evidence for a rapid fundamental movement skill assessment tool for primary education settings

Assessment of motor competence is critical for planning and monitoring children's development. However, many assessment tools require time, training, and resources not available to most teachers. We aimed to evaluate the external aspect of construct validity of a rapid product-oriented fundamental movement skill assessment tool designed specifically for primary education settings.

Research

Profile of the PLAY spaces & environments for children’s physical activity, sedentary behaviour and sleep (PLAYCE) cohort study, Western Australia

Childhood is a critical period for the development of movement behaviours such as physical activity, sleep and sedentary behaviour. The PLAYCE Cohort was established to investigate how movement behaviours change over early to middle childhood, across key behaviour settings and relationships with health and development. An overview of the PLAYCE cohort, summary of key findings to date, and future research opportunities are presented.

Research

Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous health

Type-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.